RGD:38489928 Rat Genome Database

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Variant: RGD:38489928 -  Homo sapiens

RGD ID: 38489928
RS ID: rs756242133
ClinVar ID: CV947604
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIP  LOC130006206  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 67,254,544
GRCh38 11 67,487,073
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001302959.2:c.-11G>A
NM_001302960.2:c.167G>A
NM_003977.4:c.167G>A
LRG_460:g.9040G>A
More... 		10/31/2019 5 prime utr variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AIP
Accession:NM_001302959
Location:5UTRS;EXON

Gene Symbol:AIP
Accession:NM_001302960
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 56
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADIIARLREDGIQKRVIQEGRGELPDFQDGTKATFHYRTLHSDDEGTVLDDSRAHGKPMELIIGKKFKLPVWETIVCTM
REGEIAQFLCDIKHVVLYPLVAKSLRNIAVGKDPLEGQRHCCGVAQMREHSSLGHADLDALQQNPQPLIFHMEMLKVESP
GTYQQDPWAMTDEEKAKAVPLIHQEGNRLYREGHVKEAAAKYYDAIACLKNLQMKEQPGSPEWIQLDQQITPLLLNYCQC
KLVVEEYYEVLDHCSSILNKQRQGLLQAGQGPRGRVECPGGPG*

Gene Symbol:AIP
Accession:NM_003977
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 56
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADIIARLREDGIQKRVIQEGRGELPDFQDGTKATFHYRTLHSDDEGTVLDDSRAHGKPMELIIGKKFKLPVWETIVCTM
REGEIAQFLCDIKHVVLYPLVAKSLRNIAVGKDPLEGQRHCCGVAQMREHSSLGHADLDALQQNPQPLIFHMEMLKVESP
GTYQQDPWAMTDEEKAKAVPLIHQEGNRLYREGHVKEAAAKYYDAIACLKNLQMKEQPGSPEWIQLDQQITPLLLNYCQC
KLVVEEYYEVLDHCSSILNKYDDNVKAYFKRGKAHAAVWNAQEAQADFAKVLELDPALAPVVSRELRALEARIRQKDEED
KARFRGIFSH*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001238617 CLINVAR
  RCV002402751 CLINVAR
dbSNP (RS) rs756242133 CLINVAR
MedGen C0027672 CLINVAR
  C3661900 CLINVAR
NCBI Gene AIP CLINVAR
  LOC130006206 CLINVAR
OMIM 605555 CLINVAR
SNOMED CT 699346009 CLINVAR